Clinical and biological progress over 50 years in Rett syndrome

[1]  H. Leonard,et al.  Expanding the clinical picture of the MECP2 Duplication syndrome , 2017, Clinical genetics.

[2]  H. Leonard,et al.  Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype , 2016, American journal of medical genetics. Part A.

[3]  A. Bird,et al.  Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes , 2016, Human molecular genetics.

[4]  H. Leonard,et al.  How can clinical ethics guide the management of comorbidities in the child with Rett syndrome? , 2016, Journal of paediatrics and child health.

[5]  H. Zoghbi,et al.  Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome , 2016, eLife.

[6]  H. Zoghbi,et al.  Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders , 2016, eLife.

[7]  M. Justice,et al.  MeCP2 co-ordinates liver lipid metabolism with the NCoR1/HDAC3 corepressor complex , 2016, Human molecular genetics.

[8]  H. Leonard,et al.  Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study , 2016, Developmental medicine and child neurology.

[9]  J. Christodoulou,et al.  The Natural History of Scoliosis in Females With Rett Syndrome , 2016, Spine.

[10]  H. Leonard,et al.  Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence , 2016, PloS one.

[11]  A. Bird,et al.  Rett Syndrome: Crossing the Threshold to Clinical Translation , 2016, Trends in Neurosciences.

[12]  Jenny Downs,et al.  Validating the Rett Syndrome Gross Motor Scale , 2016, PloS one.

[13]  J. Christodoulou,et al.  Family satisfaction following spinal fusion in Rett syndrome , 2016, Developmental neurorehabilitation.

[14]  H. Zoghbi,et al.  Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligos , 2015, Nature.

[15]  Hye-Seung Lee,et al.  The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders. , 2015, Pediatric neurology.

[16]  S. Cobb,et al.  Gene therapy for Rett syndrome: prospects and challenges , 2015 .

[17]  Heather M. O'Leary,et al.  Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales , 2015, Journal of Neurodevelopmental Disorders.

[18]  A. Boskey,et al.  Osteoblast function and bone histomorphometry in a murine model of Rett syndrome. , 2015, Bone.

[19]  N. Landsberger,et al.  MeCP2 Affects Skeletal Muscle Growth and Morphology through Non Cell-Autonomous Mechanisms , 2015, PloS one.

[20]  Angela Boland,et al.  Effectiveness of traditional genetic testing methods , 2015 .

[21]  K. Dwan,et al.  Erlotinib and gefitinib for treating non-small cell lung cancer that has progressed following prior chemotherapy (review of NICE technology appraisals 162 and 175): a systematic review and economic evaluation. , 2015, Health technology assessment.

[22]  H. Leonard,et al.  Longitudinal bone mineral content and density in Rett syndrome and their contributing factors. , 2015, Bone.

[23]  E. Anagnostou,et al.  Improving Treatment Trial Outcomes for Rett Syndrome , 2015, Journal of child neurology.

[24]  S. Pati,et al.  Rett Syndrome: Reaching for Clinical Trials , 2015, Neurotherapeutics.

[25]  H. Leonard,et al.  The trajectories of sleep disturbances in Rett syndrome , 2015, Journal of sleep research.

[26]  Rachel S. Levy-Drummer,et al.  Epilepsy in Rett syndrome—Lessons from the Rett networked database , 2015, Epilepsia.

[27]  Harrison W. Gabel,et al.  Disruption of DNA methylation-dependent long gene repression in Rett syndrome , 2015, Nature.

[28]  A. Bird,et al.  Rett syndrome: a complex disorder with simple roots , 2015, Nature Reviews Genetics.

[29]  S. Girdler,et al.  Aspects of speech‐language abilities are influenced by MECP2 mutation type in girls with Rett syndrome , 2015, American journal of medical genetics. Part A.

[30]  S. Cobb,et al.  Biomechanical properties of bone in a mouse model of Rett syndrome , 2015, Bone.

[31]  J. Christodoulou,et al.  Experience of Gastrostomy Using a Quality Care Framework: The Example of Rett Syndrome , 2014, Medicine.

[32]  S. Nelson,et al.  Cell-Type-Specific Repression by Methyl-CpG-Binding Protein 2 Is Biased toward Long Genes , 2014, The Journal of Neuroscience.

[33]  Michael R. Green,et al.  Genetic and pharmacological reactivation of the mammalian inactive X chromosome , 2014, Proceedings of the National Academy of Sciences.

[34]  L. Peichl,et al.  DNA methylation reader MECP2: cell type- and differentiation stage-specific protein distribution , 2014, Epigenetics & Chromatin.

[35]  K. Igarashi,et al.  VPA Alleviates Neurological Deficits and Restores Gene Expression in a Mouse Model of Rett Syndrome , 2014, PloS one.

[36]  H. Leonard,et al.  Twenty years of surveillance in Rett syndrome: what does this tell us? , 2014, Orphanet Journal of Rare Diseases.

[37]  H. Zoghbi,et al.  Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice , 2014, eLife.

[38]  J. Hell,et al.  GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells , 2014, European Journal of Human Genetics.

[39]  Michael L. Gonzales,et al.  Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome. , 2014, Human molecular genetics.

[40]  Edward S. Brodkin,et al.  Cellular Origins of Auditory Event-Related Potential Deficits in Rett Syndrome , 2014, Nature Neuroscience.

[41]  M. D'Esposito,et al.  Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome , 2014, Neurobiology of Disease.

[42]  K. Brøndum‐Nielsen,et al.  Low bone turnover phenotype in Rett syndrome: results of biochemical bone marker analysis , 2014, Pediatric Research.

[43]  Heather M. O'Leary,et al.  Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome , 2014, Proceedings of the National Academy of Sciences.

[44]  Z. Qiu,et al.  MeCP2 suppresses nuclear microRNA processing and dendritic growth by regulating the DGCR8/Drosha complex. , 2014, Developmental cell.

[45]  H. Zoghbi,et al.  Brief Report: MECP2 Mutations in People Without Rett Syndrome , 2014, Journal of autism and developmental disorders.

[46]  W. Frankel,et al.  Loss of MeCP2 From Forebrain Excitatory Neurons Leads to Cortical Hyperexcitation and Seizures , 2014, The Journal of Neuroscience.

[47]  H. Leonard,et al.  Gastrointestinal Dysmotility in Rett Syndrome , 2014, Journal of pediatric gastroenterology and nutrition.

[48]  G. Ananiev,et al.  Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons. , 2014, Human molecular genetics.

[49]  W. Kaufmann,et al.  Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome , 2014, Journal of Medical Genetics.

[50]  H. Leonard,et al.  Early development and regression in Rett syndrome , 2013, Clinical genetics.

[51]  G. Mandel,et al.  Oligodendrocyte Lineage Cells Contribute Unique Features to Rett Syndrome Neuropathology , 2013, The Journal of Neuroscience.

[52]  H. Leonard,et al.  Assessment and Management of Nutrition and Growth in Rett Syndrome , 2013, Journal of pediatric gastroenterology and nutrition.

[53]  Berj L. Bardakjian,et al.  Rescue of behavioral and EEG deficits in male and female Mecp2-deficient mice by delayed Mecp2 gene reactivation , 2013, Human molecular genetics.

[54]  H. Leonard,et al.  Resourceful and creative methods are necessary to research rare disorders , 2013, Developmental medicine and child neurology.

[55]  A. Bird,et al.  Systemic Delivery of MeCP2 Rescues Behavioral and Cellular Deficits in Female Mouse Models of Rett Syndrome , 2013, The Journal of Neuroscience.

[56]  Kairong Cui,et al.  Intragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition , 2013, Cell Research.

[57]  Harrison W. Gabel,et al.  Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR , 2013, Nature.

[58]  J. Merrick,et al.  Osteoporosis in Rett syndrome: a case study presenting a novel management intervention for severe osteoporosis , 2013, Osteoporosis International.

[59]  A. Bird,et al.  Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor , 2013, Nature Neuroscience.

[60]  H. Leonard,et al.  Using a large international sample to investigate epilepsy in Rett syndrome , 2013, Developmental medicine and child neurology.

[61]  N. Funel,et al.  Vascular Dysfunction in a Mouse Model of Rett Syndrome and Effects of Curcumin Treatment , 2013, PloS one.

[62]  L. Ricceri,et al.  Rett syndrome treatment in mouse models: Searching for effective targets and strategies , 2013, Neuropharmacology.

[63]  Pasko Rakic,et al.  Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. , 2013, Genes & development.

[64]  Angela D. Wilkins,et al.  An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders , 2013, Cell.

[65]  A. H. Smits,et al.  Dynamic Readers for 5-(Hydroxy)Methylcytosine and Its Oxidized Derivatives , 2013, Cell.

[66]  N. Heintz,et al.  MeCP2 binds to 5hmc enriched within active genes and accessible chromatin in the nervous system , 2012, Cell.

[67]  Hye-Seung Lee,et al.  Growth failure and outcome in Rett syndrome , 2012, Neurology.

[68]  A. Bird,et al.  Disease Modeling Using Embryonic Stem Cells: MeCP2 Regulates Nuclear Size and RNA Synthesis in Neurons , 2012, Stem cells.

[69]  A. Bird,et al.  Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows. , 2012, Human molecular genetics.

[70]  A. Bird,et al.  Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome. , 2012, Brain : a journal of neurology.

[71]  Meredith Wilson,et al.  The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy , 2012, European Journal of Human Genetics.

[72]  H. Leonard,et al.  The phenotype associated with a large deletion on MECP2 , 2012, European Journal of Human Genetics.

[73]  L. Carrel,et al.  X-Chromosome Inactivation in Rett Syndrome Human Induced Pluripotent Stem Cells , 2012, Front. Psychiatry.

[74]  H. Zoghbi,et al.  MeCP2: only 100% will do , 2012, Nature Neuroscience.

[75]  J. Downs,et al.  The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study , 2012, Developmental neurorehabilitation.

[76]  S. Skinner,et al.  Pathogenesis of Lethal Cardiac Arrhythmias in Mecp2 Mutant Mice: Implication for Therapy in Rett Syndrome , 2011, Science Translational Medicine.

[77]  S. Skinner,et al.  Vitamin D Deficiency Is Prevalent in Girls and Women With Rett Syndrome , 2011, Journal of pediatric gastroenterology and nutrition.

[78]  S. Cobb,et al.  MeCP2 and Rett syndrome: reversibility and potential avenues for therapy. , 2011, The Biochemical journal.

[79]  P. Platte,et al.  Increased Resting Metabolic Rate in Girls with Rett Syndrome Compared to Girls with Developmental Disabilities , 2011, Neuropediatrics.

[80]  K. Brøndum‐Nielsen,et al.  DXA measurements in rett syndrome reveal small bones with low bone mass , 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[81]  H. Leonard,et al.  Trends in the Diagnosis of Rett Syndrome in Australia , 2011, Pediatric Research.

[82]  Juan I. Young,et al.  Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes , 2011, European Journal of Human Genetics.

[83]  J. Raber,et al.  A role for glia in the progression of Rett’s syndrome , 2011, Nature.

[84]  Hongda Li,et al.  Loss of Activity-Induced Phosphorylation of MeCP2 Enhances Synaptogenesis, LTP, and Spatial Memory , 2011, Nature Neuroscience.

[85]  J. Noebels,et al.  MeCP2 Is Critical within HoxB1-Derived Tissues of Mice for Normal Lifespan , 2011, The Journal of Neuroscience.

[86]  Rodney C. Samaco,et al.  Adult Neural Function Requires MeCP2 , 2011, Science.

[87]  N. Amariglio,et al.  Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations , 2011, PloS one.

[88]  W. Kaufmann,et al.  Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period , 2011, Journal of child neurology.

[89]  M. Johnston,et al.  Neurodevelopmental disorders: Clinical criteria for Rett syndrome , 2011, Nature Reviews Neurology.

[90]  H. Leonard,et al.  Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome , 2011, Journal of child neurology.

[91]  S. Cobb,et al.  Synaptic plasticity deficits in an experimental model of rett syndrome: long-term potentiation saturation and its pharmacological reversal , 2011, Neuroscience.

[92]  Wendy W. Wu,et al.  Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: Insights into Rett syndrome , 2011, Autonomic Neuroscience.

[93]  H. Leonard,et al.  Bone Mineral Content and Density in Rett Syndrome and Their Contributing Factors , 2011, Pediatric Research.

[94]  K. Brøndum‐Nielsen,et al.  Patients With Rett Syndrome Sustain Low-Energy Fractures , 2011, Pediatric Research.

[95]  M. Giustetto,et al.  Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. , 2011, Human molecular genetics.

[96]  W. Kaufmann,et al.  Rett syndrome: Revised diagnostic criteria and nomenclature , 2010, Annals of neurology.

[97]  P. Huppke,et al.  Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model , 2010, Journal of Molecular Medicine.

[98]  Fred H. Gage,et al.  A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells , 2010, Cell.

[99]  M. Johnston,et al.  Bone Mass in Rett Syndrome: Association With Clinical Parameters and MECP2 Mutations , 2010, Pediatric Research.

[100]  H. Leonard,et al.  Survival with Rett syndrome: comparing Rett’s original sample with data from the Australian Rett Syndrome Database , 2010, Developmental medicine and child neurology.

[101]  H. Leonard,et al.  Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome , 2010, American journal of medical genetics. Part A.

[102]  W. Kaufmann,et al.  Level of purposeful hand function as a marker of clinical severity in Rett syndrome , 2010, Developmental medicine and child neurology.

[103]  G. Valacchi,et al.  Unrecognized lung disease in classic Rett syndrome: a physiologic and high-resolution CT imaging study. , 2010, Chest.

[104]  H. Leonard,et al.  Valproate and risk of fracture in Rett syndrome , 2010, Archives of Disease in Childhood.

[105]  Hye-Seung Lee,et al.  Profiling Scoliosis in Rett Syndrome , 2010, Pediatric Research.

[106]  S. Skinner,et al.  Epilepsy and the natural history of Rett syndrome , 2010, Neurology.

[107]  Robert S. Illingworth,et al.  Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. , 2010, Molecular cell.

[108]  Rodney C. Samaco,et al.  Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities , 2009, Proceedings of the National Academy of Sciences.

[109]  J. Christodoulou,et al.  Updating the profile of C-terminal MECP2 deletions in Rett syndrome , 2009, Journal of Medical Genetics.

[110]  N. C. Schanen,et al.  Mecp2 deficiency decreases bone formation and reduces bone volume in a rodent model of Rett syndrome. , 2009, Bone.

[111]  Brian G. Smith,et al.  Guidelines for Management of Scoliosis in Rett Syndrome Patients Based on Expert Consensus and Clinical Evidence , 2009, Spine.

[112]  L. Wilkins.  The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome , 2009, Neurology.

[113]  Jim Selfridge,et al.  The role of MeCP2 in the brain. , 2009, Annual review of cell and developmental biology.

[114]  H. Leonard,et al.  InterRett, a model for international data collection in a rare genetic disorder. , 2009, Research in autism spectrum disorders.

[115]  N. Heintz,et al.  The Nuclear DNA Base 5-Hydroxymethylcytosine Is Present in Purkinje Neurons and the Brain , 2009, Science.

[116]  Ralf W. Schlosser,et al.  Communication intervention in Rett syndrome: A systematic review , 2009 .

[117]  R. Jaenisch,et al.  Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function , 2009, Proceedings of the National Academy of Sciences.

[118]  G. Mandel,et al.  Non–cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology , 2009, Nature Neuroscience.

[119]  H. Leonard,et al.  Is the girl with Rett syndrome normal at birth? , 2008, Developmental medicine and child neurology.

[120]  Debra E Weese-Mayer,et al.  Autonomic dysregulation in young girls with Rett Syndrome during nighttime in‐home recordings , 2008, Pediatric pulmonology.

[121]  K. Motil,et al.  Bone Mineral Content and Bone Mineral Density Are Lower in Older Than in Younger Females With Rett Syndrome , 2008, Pediatric Research.

[122]  Huda Y. Zoghbi,et al.  Deletion of Mecp2 in Sim1-Expressing Neurons Reveals a Critical Role for MeCP2 in Feeding Behavior, Aggression, and the Response to Stress , 2008, Neuron.

[123]  Alessandra Renieri,et al.  FOXG1 is responsible for the congenital variant of Rett syndrome. , 2008, American journal of human genetics.

[124]  A. Hannan,et al.  Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome –Mecp2 gene dosage effects and BDNF expression , 2008, The European journal of neuroscience.

[125]  Stephen T. C. Wong,et al.  MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription , 2008, Science.

[126]  H. Zoghbi,et al.  Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome , 2008, Neurology.

[127]  W. Kaufmann,et al.  Investigating genotype–phenotype relationships in Rett syndrome using an international data set , 2008, Neurology.

[128]  H. Leonard,et al.  Early Determinants of Fractures in Rett Syndrome , 2008, Pediatrics.

[129]  Gail Mandel,et al.  Homeostatic regulation of MeCP2 expression by a CREB-induced microRNA , 2007, Nature Neuroscience.

[130]  D. Young,et al.  Feeding Experiences and Growth Status in a Rett Syndrome Population , 2007, Journal of pediatric gastroenterology and nutrition.

[131]  D. Young,et al.  Sleep problems in Rett syndrome , 2007, Brain and Development.

[132]  Christian Rosenmund,et al.  MeCP2 Controls Excitatory Synaptic Strength by Regulating Glutamatergic Synapse Number , 2007, Neuron.

[133]  J. Christodoulou,et al.  Seizures in Rett syndrome: an overview from a one-year calendar study. , 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[134]  P. Sponseller,et al.  Evidence Basis for Management of Spine and Chest Wall Deformities in Children , 2007, Spine.

[135]  Robert L L Smith,et al.  Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband , 2007, European Journal of Human Genetics.

[136]  A. Bird,et al.  Reversal of Neurological Defects in a Mouse Model of Rett Syndrome , 2007, Science.

[137]  Debra E Weese-Mayer,et al.  Autonomic Nervous System Dysregulation: Breathing and Heart Rate Perturbation During Wakefulness in Young Girls with Rett Syndrome , 2006, Pediatric Research.

[138]  J. Christodoulou,et al.  Predictors of seizure onset in Rett syndrome. , 2006, The Journal of pediatrics.

[139]  T. Charman,et al.  Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation , 2006, Journal of Medical Genetics.

[140]  E. Kavalali,et al.  MeCP2-Dependent Transcriptional Repression Regulates Excitatory Neurotransmission , 2006, Current Biology.

[141]  H. Leonard,et al.  The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database , 2006, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[142]  R. Jaenisch,et al.  Postnatal Loss of Methyl-CpG Binding Protein 2 in the Forebrain is Sufficient to Mediate Behavioral Aspects of Rett Syndrome in Mice , 2006, Biological Psychiatry.

[143]  Juan I. Young,et al.  Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[144]  B. Hagberg,et al.  MECP2 Abnormality Phenotypes: Clinicopathologic Area With Broad Variability , 2005, Journal of child neurology.

[145]  J. Gécz,et al.  Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. , 2005, American journal of human genetics.

[146]  Rudolf Jaenisch,et al.  Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[147]  Thomas Cremer,et al.  Methyl CpG–binding proteins induce large-scale chromatin reorganization during terminal differentiation , 2005, The Journal of cell biology.

[148]  K. Hameister,et al.  Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome , 2005, Journal of Medical Genetics.

[149]  Linda Slack-Smith,et al.  How Can the Internet Help Parents of Children With Rare Neurologic Disorders? , 2004, Journal of child neurology.

[150]  H. Zoghbi,et al.  Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. , 2004, Human molecular genetics.

[151]  R. Jaenisch,et al.  Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[152]  R. Cantor,et al.  Phenotypic manifestations of MECP2 mutations in classical and atypical rett syndrome , 2004, American journal of medical genetics. Part A.

[153]  J Christodoulou,et al.  Refining the phenotype of common mutations in Rett syndrome , 2004, Journal of Medical Genetics.

[154]  R. Prescott,et al.  Results of Surgery for Scoliosis in Rett Syndrome , 2003, Journal of child neurology.

[155]  Andrew J. Grimm,et al.  RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution , 2003, Human mutation.

[156]  B. Hagberg,et al.  Rett females: patterns of characteristic side-asymmetric neuroimpairments at long-term follow-up. , 2003, Neuropediatrics.

[157]  M. Msall,et al.  Describing the phenotype in Rett syndrome using a population database , 2003, Archives of disease in childhood.

[158]  R. Jaenisch,et al.  Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[159]  Sheena Reilly,et al.  The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome. , 2002, Journal of child psychology and psychiatry, and allied disciplines.

[160]  F. Hanefeld,et al.  An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. , 2002, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[161]  P. Huppke,et al.  Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. , 2002, Neuropediatrics.

[162]  H. Zoghbi,et al.  Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. , 2002, Human molecular genetics.

[163]  J. Christodoulou,et al.  Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration , 2001, Brain and Development.

[164]  E. Monrós,et al.  Rett syndrome in Spain: mutation analysis and clinical correlations , 2001, Brain and Development.

[165]  A. Percy.  Rett syndrome: clinical correlates of the newly discovered gene , 2001, Brain and Development.

[166]  G. Hagberg,et al.  Head growth in Rett syndrome , 2001, Brain and Development.

[167]  S. Ishii,et al.  The Ski Protein Family Is Required for MeCP2-mediated Transcriptional Repression* , 2001, The Journal of Biological Chemistry.

[168]  G. Jamal,et al.  Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder , 2001, Archives of disease in childhood.

[169]  Masaya Segawa,et al.  Guidelines for reporting clinical features in cases with MECP2 mutations , 2001, Brain and Development.

[170]  E. Hoffman,et al.  MeCP2 mutations in children with and without the phenotype of Rett syndrome , 2001, Neurology.

[171]  R. Jaenisch,et al.  Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice , 2001, Nature Genetics.

[172]  G. Hagberg,et al.  Epilepsy in a representative series of Rett syndrome , 2001, Acta paediatrica.

[173]  J Dragich,et al.  Rett syndrome: a surprising result of mutation in MECP2. , 2000, Human molecular genetics.

[174]  P. Jonveaux,et al.  MECP2 mutations account for most cases of typical forms of Rett syndrome. , 2000, Human molecular genetics.

[175]  H. Zoghbi,et al.  Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes , 2000, Annals of neurology.

[176]  F. Vitelli,et al.  Preserved speech variant is allelic of classic Rett syndrome , 2000, European Journal of Human Genetics.

[177]  D. Cooper,et al.  Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. , 2000, Human molecular genetics.

[178]  H. Zoghbi,et al.  Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 , 1999, Nature Genetics.

[179]  J. Christodoulou,et al.  A population‐based approach to the investigation of osteopenia in Rett syndrome , 1999, Developmental medicine and child neurology.

[180]  E. Hoffman,et al.  Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. , 1998, American journal of human genetics.

[181]  U. Francke,et al.  A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map. , 1998, American journal of human genetics.

[182]  J. Strouboulis,et al.  Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription , 1998, Nature Genetics.

[183]  Colin A. Johnson,et al.  Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex , 1998, Nature.

[184]  A. J. McArthur,et al.  Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment , 1998, Developmental medicine and child neurology.

[185]  K. Motil,et al.  Hand and Foot Growth Failure in Rett Syndrome , 1998, Journal of child neurology.

[186]  D. Sartoris,et al.  Osteopenia in Rett syndrome. , 1997, The Journal of pediatrics.

[187]  B. Hagberg.  Clinical Delineation of Rett Syndrome Variants , 1995, Neuropediatrics.

[188]  B. Antalffy,et al.  Selective Dendritic Alterations in the Cortex of Rett Syndrome , 1995, Journal of neuropathology and experimental neurology.

[189]  Alison Kerr,et al.  Rett Syndrome: From Gene to Gesture , 1994, Journal of the Royal Society of Medicine.

[190]  B. Hagberg,et al.  Rett variants: a suggested model for inclusion criteria. , 1994, Pediatric neurology.

[191]  K. Motil,et al.  Altered Energy Balance May Account for Growth Failure in Rett Syndrome , 1994, Journal of child neurology.

[192]  A. Bird,et al.  Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. , 1993, Nucleic acids research.

[193]  D. Glaze,et al.  Epidemiology of Rett syndrome: a population-based registry. , 1993, Pediatrics.

[194]  A. Bird,et al.  Purification, sequence, and cellular localization of a novel chromosomal protein that binds to Methylated DNA , 1992, Cell.

[195]  M. Zappella.  The rett girls with preserved speech , 1992, Brain and Development.

[196]  E. Trevathan.  Rett syndrome. , 1989, Pediatrics.

[197]  D. Mabin.  Diagnostic criteria for Rett syndrome. The Rett Syndrome diagnostic criteria work group Ann. Neurol , 1988, Neurophysiologie Clinique/Clinical Neurophysiology.

[198]  J. Opitz,et al.  Rett syndrome—a review and discussion of syndrome delineation and syndrome definition , 1987, Brain and Development.

[199]  J. Frost,et al.  Rett's Syndrome: Correlation of Electroencephalographic Characteristics With Clinical Staging , 1987 .

[200]  F. Hanefeld,et al.  Rett syndrome: Criteria for inclusion and exclusion , 1985, Brain and Development.

[201]  J. Stephenson,et al.  Rett's syndrome in the west of Scotland. , 1985, British medical journal.

[202]  Jean Aicardi,et al.  A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases , 1983, Annals of neurology.

[203]  A Rett,et al.  [On a unusual brain atrophy syndrome in hyperammonemia in childhood]. , 1966, Wiener medizinische Wochenschrift.

[204]  H. Zoghbi,et al.  A Mutant Form of MeCP2 Protein Associated with Human Rett Syndrome Cannot Be Displaced from Methylated DNA by Notch in Xenopus Embryos. , 2016, Molecular cell.

[205]  J. Frost,et al.  Correlation of Electroencephalographic Characteristics With Clinical Staging , 2016 .

[206]  A. Percy.  The American history of Rett syndrome. , 2014, Pediatric neurology.

[207]  W. Han,et al.  Leptin resistance and obesity in mice with deletion of methyl-CpG-binding protein 2 (MeCP2) in hypothalamic pro-opiomelanocortin (POMC) neurons , 2013, Diabetologia.

[208]  S. Cobb,et al.  Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice. , 2013, Molecular therapy : the journal of the American Society of Gene Therapy.

[209]  D. Young,et al.  The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population. , 2011, Research in autism spectrum disorders.

[210]  S. Skinner,et al.  Longevity in Rett syndrome: analysis of the North American Database. , 2010, The Journal of pediatrics.

[211]  L. Samuelsson,et al.  Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients. , 2003, Genetic testing.

[212]  K. Hunter.  Looking from the inside out: a parent's perspective. , 2002, Mental retardation and developmental disabilities research reviews.

[213]  A. Bird.  DNA methylation patterns and epigenetic memory. , 2002, Genes & development.

[214]  A. Bird,et al.  A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome , 2001, Nature Genetics.

[215]  J. Frost,et al.  Rett syndrome: characterization of seizures versus non-seizures. , 1998, Electroencephalography and clinical neurophysiology.

[216]  D. English,et al.  The prevalence and incidence of Rett syndrome in Australia. , 1997, European child & adolescent psychiatry.

[217]  P. M. Fitzgerald,et al.  Rett syndrome and associated movement disorders , 1990, Movement disorders : official journal of the Movement Disorder Society.

[218]  E. Trevathan,et al.  The epidemiology and public health significance of Rett syndrome. , 1988, Journal of child neurology.

[219]  K. Hunter.  Role of the International Rett Syndrome Association. , 1988, Journal of child neurology.

[220]  H. Moser,et al.  Rett syndrome--natural history in 70 cases. , 1986, American journal of medical genetics. Supplement.

[221]  J. Opitz,et al.  Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. , 1986, American journal of medical genetics. Supplement.

[222]  J. Aicardi,et al.  Atypical forms of Rett syndrome. , 1986, American journal of medical genetics. Supplement.

[223]  A. Bird,et al.  Gene Expression Analysis Exposes Mitochondrial Abnormalities in a Mouse Model of Rett Syndrome , 2006, Molecular and Cellular Biology.